SLC22A4 — 188 ClinVar variants
All ClinVar germline SLC22A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
2 Conflicting · 19 Benign · 7 Benign/Likely benign · 62 Likely benign · 98 Uncertain significance
Full SLC22A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC22A4 p.Ala61Thr Uncertain significance Multiple submitters
- SLC22A4 p.Gly368Glu Uncertain significance Multiple submitters
-
SLC22A4 p.Leu233Phe
Uncertain significance
Multiple submitters
SLC22A4-related disorder
- SLC22A4 p.Leu455Val Uncertain significance Multiple submitters
- SLC22A4 p.Lys434Thr Uncertain significance Multiple submitters
- SLC22A4 p.Pro266Gln Uncertain significance Multiple submitters
- SLC22A4 p.Thr464Ala Uncertain significance Multiple submitters
- SLC22A4 p.Val159Met Uncertain significance Multiple submitters
- SLC22A4 p.Val212Met Uncertain significance Multiple submitters
- SLC22A4 p.Ala175Thr Uncertain significance Single submitter
- SLC22A4 p.Ala262Val Uncertain significance Single submitter
- SLC22A4 p.Ala339Thr Uncertain significance Single submitter
- SLC22A4 p.Ala460Val Uncertain significance Single submitter
- SLC22A4 p.Arg166Gly Uncertain significance Single submitter
- SLC22A4 p.Arg227His Uncertain significance Single submitter
- SLC22A4 p.Arg254Gly Uncertain significance Single submitter
- SLC22A4 p.Arg291Thr Uncertain significance Single submitter
- SLC22A4 p.Arg398His Uncertain significance Single submitter
- SLC22A4 p.Arg457Ser Uncertain significance Single submitter
- SLC22A4 p.Arg535Gly Uncertain significance Single submitter
- SLC22A4 p.Arg70Leu Uncertain significance Single submitter
- SLC22A4 p.Asn210Lys Uncertain significance Single submitter
- SLC22A4 p.Asn210Ser Uncertain significance Single submitter
- SLC22A4 p.Asn32Ser Uncertain significance Single submitter
- SLC22A4 p.Asn65Asp Uncertain significance Single submitter
- SLC22A4 p.Asp73Gly Uncertain significance Single submitter
- SLC22A4 p.Cys113Tyr Uncertain significance Single submitter
- SLC22A4 p.Gln298Lys Uncertain significance Single submitter
- SLC22A4 p.Glu13Lys Uncertain significance Single submitter
- SLC22A4 p.Gly161Arg Uncertain significance Single submitter
- SLC22A4 p.Gly182Asp Uncertain significance Single submitter
- SLC22A4 p.Gly482Ser Uncertain significance Single submitter
- SLC22A4 p.Ile216Val Uncertain significance Single submitter
- SLC22A4 p.Ile229Thr Uncertain significance Single submitter
- SLC22A4 p.Ile296Val Uncertain significance Single submitter
- SLC22A4 p.Ile329Val Uncertain significance Single submitter
- SLC22A4 p.Ile343Val Uncertain significance Single submitter
-
SLC22A4 p.Ile491Val
Uncertain significance
Single submitter
SLC22A4-related disorder
- SLC22A4 p.Ile502Thr Uncertain significance Single submitter
- SLC22A4 p.Ile548Arg Uncertain significance Single submitter
- SLC22A4 p.Leu105Val Uncertain significance Single submitter
- SLC22A4 p.Leu144Pro Uncertain significance Single submitter
- SLC22A4 p.Leu24Pro Uncertain significance Single submitter
- SLC22A4 p.Leu392Met Uncertain significance Single submitter
- SLC22A4 p.Leu505Ile Uncertain significance Single submitter
- SLC22A4 p.Leu515Phe Uncertain significance Single submitter
- SLC22A4 p.Met205Val Uncertain significance Single submitter
- SLC22A4 p.Phe149Leu Uncertain significance Single submitter
- SLC22A4 p.Phe414Ser Uncertain significance Single submitter
- SLC22A4 p.Pro281Thr Uncertain significance Single submitter
- SLC22A4 p.Pro53Arg Uncertain significance Single submitter
- SLC22A4 p.Ser157Phe Uncertain significance Single submitter
- SLC22A4 p.Ser192Ile Uncertain significance Single submitter
- SLC22A4 p.Ser345Thr Uncertain significance Single submitter
- SLC22A4 p.Thr146Ile Uncertain significance Single submitter
- SLC22A4 p.Thr394Ile Uncertain significance Single submitter
- SLC22A4 p.Thr45Ile Uncertain significance Single submitter
- SLC22A4 p.Trp256Arg Uncertain significance Single submitter
- SLC22A4 p.Trp256Cys Uncertain significance Single submitter
- SLC22A4 p.Val151Ile Uncertain significance Single submitter
- SLC22A4 p.Val153Met Uncertain significance Single submitter
- SLC22A4 p.Val241Asp Uncertain significance Single submitter
- SLC22A4 p.Val241Ile Uncertain significance Single submitter
- SLC22A4 p.Val411Met Uncertain significance Single submitter
- SLC22A4 p.Val446Ile Uncertain significance Single submitter
- SLC22A4 p.Val492Ile Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- SLC22A4 p.Arg70Pro Uncertain significance Multiple submitters
- SLC22A4 p.Gly156Ser Uncertain significance Multiple submitters
- SLC22A4 p.Gly15Arg Uncertain significance Multiple submitters
- SLC22A4 p.Met431Val Uncertain significance Multiple submitters
- SLC22A4 p.Phe313Leu Uncertain significance Multiple submitters
-
SLC22A4 p.Phe357Leu
Uncertain significance
Multiple submitters
SLC22A4-related disorder
-
SLC22A4 p.Ala402Val
Uncertain significance
Single submitter
SLC22A4-related disorder
- SLC22A4 p.Ala56Gly Uncertain significance Single submitter
- SLC22A4 p.Arg166Thr Uncertain significance Single submitter
- SLC22A4 p.Gln187His Uncertain significance Single submitter
- SLC22A4 p.Glu292Lys Uncertain significance Single submitter
- SLC22A4 p.Gly512Arg Uncertain significance Single submitter
- SLC22A4 p.Met195Thr Uncertain significance Single submitter
- SLC22A4 p.Met344Lys Benign Single submitter
- SLC22A4 p.Phe174Leu Uncertain significance Single submitter
- SLC22A4 p.Phe22Cys Uncertain significance Single submitter
- SLC22A4 p.Pro266Leu Uncertain significance Single submitter
- SLC22A4 p.Pro53Leu Uncertain significance Single submitter
- SLC22A4 p.Ser286Cys Uncertain significance Single submitter
- SLC22A4 p.Thr197Ile Uncertain significance Single submitter
- SLC22A4 p.Thr237Lys Uncertain significance Single submitter
- SLC22A4 p.Thr464Ile Uncertain significance Single submitter
All SLC22A4 variants
Conflicting classifications of pathogenicity 2
- p.Arg336Gln Single submitter ⚠
- p.Val172Ile Single submitter ⚠
Benign 19
- c.1046+5G>A Multiple submitters
- c.952-96A>G Multiple submitters
- p.Gly471= Multiple submitters
- p.Ile306Thr Multiple submitters
- p.Leu155= Multiple submitters
- p.Leu503Phe Multiple submitters
- p.Thr394= Multiple submitters
- c.1047-196G>A Single submitter
- c.1444+76T>C Single submitter
- c.393+150A>C Single submitter
- c.394-7318A>G Single submitter
- c.498-121A>G Single submitter
- c.498-20T>C Single submitter
- c.498-85G>A Single submitter
- c.653-93G>C Single submitter
- c.824+37= Single submitter
- p.Ile202= Single submitter
- p.Met344Lys Single submitter ⚠
- p.Met487Thr Single submitter
Benign/Likely benign 7
- c.1261+19T>C Multiple submitters
- c.1444+12C>T Multiple submitters
- c.498-7T>C Multiple submitters
- p.Cys113= Multiple submitters
- p.Glu450= Multiple submitters
- p.Ile500= Multiple submitters
- p.Ser147= Multiple submitters
Likely benign 62
- c.1445-8C>T Multiple submitters
- c.653-14C>T Multiple submitters
- p.Ile502= Multiple submitters
- p.Leu245= Multiple submitters
- p.Leu503= Multiple submitters
- p.Pro46= Multiple submitters
- p.Ser26= Multiple submitters
- p.Thr549= Multiple submitters
- c.1046+11A>C Single submitter
- c.1047-17T>C Single submitter
- c.1262-10T>C Single submitter
- c.1445-12C>T Single submitter
- c.1445-9G>A Single submitter
- c.498-15T>C Single submitter
- c.652+18G>A Single submitter
- c.824+19C>T Single submitter
- c.825-16T>A Single submitter
- c.825-4A>G Single submitter
- c.952-16A>G Single submitter
- c.-10A>T Single submitter
- p.Ala214= Single submitter
- p.Ala262= Single submitter
- p.Ala460= Single submitter
- p.Arg334= Single submitter
- p.Arg336Trp Single submitter
- p.Arg72= Single submitter
- p.Arg75= Single submitter
- p.Asn139= Single submitter
- p.Asn304= Single submitter
- p.Asp255= Single submitter
- p.Asp54= Single submitter
- p.Gln325= Single submitter
- p.Gln523= Single submitter
- p.Glu111= Single submitter
- p.Glu517= Single submitter
- p.Gly152= Single submitter
- p.Ile491= Single submitter
- p.Ile89= Single submitter
- p.Leu11= Single submitter
- p.Leu186= Single submitter
- p.Leu248= Single submitter
- p.Leu330= Single submitter
- p.Leu348= Single submitter
- p.Leu392= Single submitter
- p.Leu412= Single submitter
- p.Leu413= Single submitter
- p.Leu95= Single submitter
- p.Phe174= Single submitter
- p.Phe249= Single submitter
- p.Pro53= Single submitter
- p.Pro78= Single submitter
- p.Ser426= Single submitter
- p.Ser60= Single submitter
- p.Ter552= Single submitter
- p.Thr197= Single submitter
- p.Thr264= Single submitter
- p.Thr466Met Single submitter
- p.Thr88= Single submitter
- p.Val213= Single submitter
- p.Val271= Single submitter
- c.*5A>G No assertion criteria SLC22A4-related disorder
- p.Arg257= No assertion criteria SLC22A4-related disorder
Uncertain significance 98
- c.393+1G>A Multiple submitters SLC22A4-related disorder
- p.Ala61Thr Multiple submitters ⚠
- p.Arg70Pro Multiple submitters ⚠
- p.Gly156Ser Multiple submitters ⚠
- p.Gly15Arg Multiple submitters ⚠
- p.Gly368Glu Multiple submitters ⚠
- p.Gly96Arg Multiple submitters
- p.Leu233Phe Multiple submitters SLC22A4-related disorder ⚠
- p.Leu455Val Multiple submitters ⚠
- p.Lys434Thr Multiple submitters ⚠
- p.Met431Val Multiple submitters ⚠
- p.Phe313Leu Multiple submitters ⚠
- p.Phe357Leu Multiple submitters SLC22A4-related disorder ⚠
- p.Pro266Gln Multiple submitters ⚠
- p.Thr464Ala Multiple submitters ⚠
- p.Val159Met Multiple submitters ⚠
- p.Val212Met Multiple submitters ⚠
- c.1445-11G>A Single submitter
- c.1445-3C>T Single submitter
- p.Ala175Thr Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala339Thr Single submitter ⚠
- p.Ala402Val Single submitter SLC22A4-related disorder ⚠
- p.Ala460Val Single submitter ⚠
- p.Ala56Gly Single submitter ⚠
- p.Arg166Gly Single submitter ⚠
- p.Arg166Thr Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg254Gly Single submitter ⚠
- p.Arg291Thr Single submitter ⚠
- p.Arg398His Single submitter ⚠
- p.Arg457Ser Single submitter ⚠
- p.Arg535Gly Single submitter ⚠
- p.Arg70Leu Single submitter ⚠
- p.Asn210Lys Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn65Asp Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Cys113Tyr Single submitter ⚠
- p.Gln187His Single submitter ⚠
- p.Gln298Lys Single submitter ⚠
- p.Glu13Lys Single submitter ⚠
- p.Glu292Lys Single submitter ⚠
- p.Glu98fs Single submitter
- p.Gly161Arg Single submitter ⚠
- p.Gly182Asp Single submitter ⚠
- p.Gly482Ser Single submitter ⚠
- p.Gly512Arg Single submitter ⚠
- p.Ile216Val Single submitter ⚠
- p.Ile229Thr Single submitter ⚠
- p.Ile296Val Single submitter ⚠
- p.Ile329Val Single submitter ⚠
- p.Ile343Val Single submitter ⚠
- p.Ile491Val Single submitter SLC22A4-related disorder ⚠
- p.Ile502Thr Single submitter ⚠
- p.Ile548Arg Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu24Pro Single submitter ⚠
- p.Leu392Met Single submitter ⚠
- p.Leu505Ile Single submitter ⚠
- p.Leu515Phe Single submitter ⚠
- p.Leu95Pro Single submitter
- p.Met195Thr Single submitter ⚠
- p.Met205Val Single submitter ⚠
- p.Phe149Leu Single submitter ⚠
- p.Phe174Leu Single submitter ⚠
- p.Phe22Cys Single submitter ⚠
- p.Phe414Ser Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro281Thr Single submitter ⚠
- p.Pro53Arg Single submitter ⚠
- p.Pro53Leu Single submitter ⚠
- p.Ser157Phe Single submitter ⚠
- p.Ser192Ile Single submitter ⚠
- p.Ser286Cys Single submitter ⚠
- p.Ser345Thr Single submitter ⚠
- p.Thr146Ile Single submitter ⚠
- p.Thr197Ile Single submitter ⚠
- p.Thr237Lys Single submitter ⚠
- p.Thr335Ile Single submitter
- p.Thr394Ile Single submitter ⚠
- p.Thr394Met Single submitter
- p.Thr45Ile Single submitter ⚠
- p.Thr464Ile Single submitter ⚠
- p.Thr504Ile Single submitter
- p.Trp256Arg Single submitter ⚠
- p.Trp256Cys Single submitter ⚠
- p.Tyr423del Single submitter
- p.Val151Ile Single submitter ⚠
- p.Val153Met Single submitter ⚠
- p.Val241Asp Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val411Met Single submitter ⚠
- p.Val446Ile Single submitter ⚠
- p.Val492Ile Single submitter ⚠
- p.Val67fs Single submitter